Linked Data
ClinVar Variation Id:
966026
dbSNP Id:
rs781834348
ExAC:
11:118897670 T / C
gnomAD v2:
11-118897670-T-C
gnomAD v3:
11-119026960-T-C
gnomAD v4:
11-119026960-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026960T>C , CM000673.2:g.119026960T>C | GRCh38 |
| NC_000011.9:g.118897670T>C , CM000673.1:g.118897670T>C | GRCh37 |
| NC_000011.8:g.118402880T>C | NCBI36 |
| NG_013331.1:g.8946A>G , LRG_187:g.8946A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.991A>G | ||
| ENST00000697845.1:n.915A>G | ||
| ENST00000697846.1:n.991A>G | ||
| ENST00000697847.1:n.991A>G | ||
| ENST00000697848.1:n.991A>G | ||
| ENST00000697849.1:n.2030A>G | ||
| ENST00000697850.1:n.991A>G | ||
| ENST00000697851.1:n.2351A>G | ||
| ENST00000638186.1:n.1065A>G | ||
| ENST00000638360.1:n.897A>G | ||
| ENST00000638925.1:n.998A>G | ||
| ENST00000650539.1:n.1167A>G | ||
| ENST00000330775.9:c.761A>G | ENSP00000476242.2:p.Glu254Gly | |
| ENST00000357590.9:c.761A>G | ENSP00000476176.2:p.Glu254Gly | |
| ENST00000524428.5:n.1083A>G | ||
| ENST00000525039.5:n.1185A>G | ||
| ENST00000525102.5:n.1519A>G | ||
| ENST00000525372.5:n.762A>G | ||
| ENST00000526275.5:n.1543A>G | ||
| ENST00000526626.6:n.724A>G | ||
| ENST00000527992.5:n.989A>G | ||
| ENST00000529510.5:n.535A>G | ||
| ENST00000530407.5:n.911A>G | ||
| ENST00000532085.1:n.3372A>G | ||
| ENST00000532888.6:n.1057A>G | ||
| ENST00000538950.5:c.542A>G | ENSP00000475991.2:p.Glu181Gly | |
| ENST00000545985.5:c.761A>G | ENSP00000475241.2:p.Glu254Gly | |
| NM_001164277.1:c.761A>G , LRG_187t1:c.761A>G | NP_001157749.1:p.Glu254Gly | |
| NM_001164278.1:c.761A>G | NP_001157750.1:p.Glu254Gly | |
| NM_001164279.1:c.542A>G | NP_001157751.1:p.Glu181Gly | |
| NM_001164280.1:c.761A>G | NP_001157752.1:p.Glu254Gly | |
| NM_001467.5:c.761A>G | NP_001458.1:p.Glu254Gly | |
| NM_001164278.2:c.761A>G | NP_001157750.1:p.Glu254Gly | |
| NM_001164279.2:c.542A>G | NP_001157751.1:p.Glu181Gly | |
| NM_001164280.2:c.761A>G | NP_001157752.1:p.Glu254Gly | |
| NM_001467.6:c.761A>G | NP_001458.1:p.Glu254Gly | |
| NM_001164277.2:c.761A>G MANE Select | NP_001157749.1:p.Glu254Gly |